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Congenital lipoid adrenal hyperplasia

Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present wit...

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Bibliografske podrobnosti
izdano v:Ann Pediatr Endocrinol Metab
Glavni avtor: Kim, Chan Jong
Format: Artigo
Jezik:Inglês
Izdano: The Korean Society of Pediatric Endocrinology 2014
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4316413/
https://ncbi.nlm.nih.gov/pubmed/25654062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2014.19.4.179
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